title: Two forms of biotin-responsive multiple carboxylase deficiency.
abstract: Biotin-responsive multiple carboxylase deficiencies are classified into early and late forms. The early form showed higher urinary excretion of 3-hydroxyisovalerate and 3-hydroxypropionate than the late form and was associated with normal plasma biotin concentrations. It is proposed that holocarboxylase synthetase and intestinal biotin absorption are defective in the early and late forms respectively.
mesh_terms: D000208:Acute Disease; D001710:Biotin / Q000378:metabolism / Q000627:therapeutic use*; D019735:Carbon-Carbon Ligases; D002908:Chronic Disease; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine; D007223:Infant; D007773:Lactates / Q000652:urine; D019344:Lactic Acid / Q000031:analogs & derivatives*; D008025:Ligases / Q000172:deficiency*; D008214:Lymphocytes / Q000201:enzymology; D015324:Pyruvate Carboxylase Deficiency Disease; D014631:Valerates / Q000652:urine
chemical_list: D006880:Hydroxy Acids; D007773:Lactates; D014631:Valerates; D019344:Lactic Acid; C004961:beta-hydroxyisovaleric acid; D001710:Biotin; C031601:hydracrylic acid; D008025:Ligases; D019735:Carbon-Carbon Ligases; C022458:propionyl CoA carboxylase (ATP-hydrolyzing); C021573:methylcrotonoyl-CoA carboxylase